What type of mutation causes sickle cell hemoglobin?
Types of Changes in DNA
|Class of Mutation||Type of Mutation||Human Disease(s) Linked to This Mutation|
|Point mutation||Substitution||Sickle-cell anemia|
|Insertion||One form of beta-thalassemia|
|Chromosomal mutation||Inversion||Opitz-Kaveggia syndrome|
How does having the sickle cell mutation affect hemoglobin in red blood cells?
The mutation in the HBB gene in sickle cell anemia changes one of the amino acids, the building blocks of proteins, in the beta chain of hemoglobin. This defect causes the hemoglobin protein to stick together and form stiff fibers. These fibers distort the shape of the red blood cells and make them more fragile.
How sickle cell anemia is caused?
Sickle cell anemia is caused by a mutation in the gene that tells your body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body (hemoglobin).
What happens if the hemoglobin gene is mutated?
A mutation in the hemoglobin gene changes the hemoglobin protein in a way that causes sickle cell anemia. As I said, a mutation in the hemoglobin gene causes sickle cell anemia.
Why can’t we cure genetic disorders?
Genetic diseases, such as Cystic Fibrosis and Huntington’s disease, are caused by small differences in the DNA that we get from each of our parents. These differences affect how we use a particular gene, and that leads to disease. So we can’t really get rid of a gene to cure a disease.
How can genetic disorders be prevented?
Genetics, Disease Prevention and Treatment FAQ
- Check regularly for the disease.
- Follow a healthy diet.
- Get regular exercise.
- Avoid smoking tobacco and too much alcohol.
- Get specific genetic testing that can help with diagnosis and treatment.